Nanopore direct RNA sequencing finds cancer's fingerprint to improve early detection

Different types of cancer have unique molecular "fingerprints" which are detectable in early stages of the disease and can be picked up with near-perfect accuracy by small, portable scanners in just a few hours, according to a study published today in the journal Molecular Cell.

The discovery by researchers at the Centre for Genomic Regulation (CRG) in Barcelona sets the foundation for creating new, non-invasive diagnostic tests that detect different types of cancer faster and earlier than currently possible.

Ribosomes are made of proteins and a special type of RNA molecule called ribosomal RNA (rRNA). rRNA molecules are the target of chemical modifications, affecting the ribosome's function. "95% of human RNA is ribosomal RNA. They are very prevalent in our cells," adds ICREA Research Professor Eva Novoa.

The researchers looked for all types of chemical modifications across human and mouse rRNA from many different tissues including the brain, heart, liver, and testis. They discovered that each tissue has a unique pattern of rRNA modifications – which they call an "epitranscriptomic fingerprint."

The team found different sets of fingerprints in diseased tissue samples from patients with cancer, particularly in the lung and testis. "The cancer cells are 'hypomodified," meaning they constantly lose some of these chemical marks," says Dr. Milenkovic. "We thought this could be a powerful biomarker," he adds.

Image source: Queralt Tolosa/Centro de Regulación Genómica.